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Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

NCT04792463 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-03-09

No results posted yet for this study

Summary

This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1. Our study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. Because the vast majority of UM develop in pre-existing nevi, characterization of individuals at high risk for development of UM will allow closer screening and earlier intervention which would improve the treatment outcome not only for retaining vision but also for overall survival. Similarly in patients with germline BAP1 mutation CM develops in premalignant atypical melanocytic lesions and careful follow up of these patients will improve the outcome of their disease. In addition this study could have impact on the management of patients with personal and/or family history of several other cancers reported in patients with germline BAP1 mutation such as mesothelioma, renal cell carcinoma, cholangiocarcinoma, hepatocellular carcinoma, meningioma and basal cell carcinoma.

Conditions

Sponsors & Collaborators

  • Mohamed Abdel-Rahman

    lead OTHER

Principal Investigators

  • Mohamed H Abdel-Rahman, MD, PhD · Ohio State University

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-03-03
Primary Completion
2026-07-01
Completion
2026-07-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04792463 on ClinicalTrials.gov